MCID: PSD012
MIFTS: 55

Pseudoachondroplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Pseudoachondroplasia

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pseudoachondroplasia:

Name: Pseudoachondroplasia 49 10 11 21 45 22 23 12 51 67 65
Pseudoachondroplastic Dysplasia 10 45 22 23 51 67
Psach 21 45 22 23 47 67
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome 45 23
 
Spondyloepiphyseal Dysplasia, Pseudoachondroplastic 10 45
Pseudoachondroplastic Spondyloepiphyseal Dysplasia 45 51
Spondyloepiphyseal Dysplasia Pseudoachondroplastic 67 24

Characteristics:

Orphanet epidemiological data:

51
pseudoachondroplasia:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

61
pseudoachondroplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 177170
Disease Ontology10 DOID:0080047
Orphanet51 750
ICD10 via Orphanet28 Q77.8
MESH via Orphanet37 C535819
UMLS via Orphanet66 C0410538
MedGen34 C0410538
MeSH36 D010009
UMLS65 C0410538

Summaries for Pseudoachondroplasia

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NIH Rare Diseases:45 Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. intelligence, facial features and head size are normal. pseudoachondroplasia is caused by mutations in the comp gene. this condition is inherited in an autosomal dominant pattern. last updated: 1/19/2011

MalaCards based summary: Pseudoachondroplasia, also known as pseudoachondroplastic dysplasia, is related to pseudoachondroplastic dysplasia 2 and multiple epiphyseal dysplasia, and has symptoms including abnormality of the hip bone, micromelia and delayed skeletal maturation. An important gene associated with Pseudoachondroplasia is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways are Gastric cancer network 2 and Defective B4GALT1 causes B4GALT1-CDG (CDG-2d). Affiliated tissues include bone, liver and endothelial, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Disease Ontology:10 An osteochondrodysplasia that has material basis in mutations in the COMP gene which results in short limb dwarfism.

UniProtKB/Swiss-Prot:67 Pseudoachondroplasia: A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease.

Genetics Home Reference:23 Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder.

OMIM:49 Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature,... (177170) more...

Wikipedia:68 Pseudoachondroplasia is a type of short-limb dwarfism. It is a genetic autosomal dominant disorder. It... more...

GeneReviews summary for NBK1487

Related Diseases for Pseudoachondroplasia

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Diseases related to Pseudoachondroplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1pseudoachondroplastic dysplasia 211.0
2multiple epiphyseal dysplasia10.5
3opiate dependence10.4ACAN, COMP
4immunodeficiency 3010.4COMP, SCN8A
5familial atrial fibrillation10.3COL9A2, COMP, SLC26A2
6brachydactyly, type a1, c10.2COL2A1, COMP
7vulvar melanoma10.2ACAN, COMP
8epiphyseal dysplasia, multiple, 410.2DCN, SLC26A2
9diphtheritic cystitis10.2COL2A1, COL9A3
10vitreoretinochoroidopathy dominant10.2COL2A1, COL9A2
11asphyxiating thoracic dystrophy10.2
12skeletal dysplasias10.2
13skeletal dysplasia10.2
14exercise-induced hyperinsulinism10.2COL9A1, COL9A2, COL9A3
15odontoma10.1ACAN, DCN
16intervertebral disc disease10.1COL9A2, COL9A3
17hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome10.1COL9A1, COL9A2, COL9A3
18macrogyria, pseudobulbar palsy and mental retardation10.1COL2A1, COL9A1
19achondroplasia10.1
20ischemic bone disease10.1ACAN, COL9A2, COL9A3
21gingival fibromatosis10.0ACAN, COL9A1, COL9A2
22osteonecrosis10.0ACAN, COL2A1
23atelosteogenesis ii10.0COL2A1, COMP, SLC26A2
24darier disease10.0COL2A1, COMP, SLC26A2
25diastrophic dysplasia10.0
26cervicitis10.0
27dwarfism10.0
28ankylosis10.0COL2A1, COMP, SLC26A2
29hypochondrogenesis10.0COL2A1, COL9A2, SLC26A2
30myopathy with extrapyramidal signs9.9ACAN, COL2A1
31dengue disease9.9ACAN, COL9A3
32delayed sleep phase syndrome9.9COL2A1, COL9A2
33whipple disease9.9COL2A1, DCN
34cataract9.9ACAN, COL2A1, COMP
35leber congenital amaurosis 39.9ACAN, COL2A1, SLC26A2
36bone structure disease9.9ACAN, COL2A1
37spondyloepimetaphyseal dysplasia9.8ACAN, COL2A1, MATN3
38glycoproteinosis9.8ACAN, COL2A1, COMP
39hypochondroplasia9.8ACAN, COMP
40asthma9.8
41tendinopathy9.8
42osteogenesis imperfecta9.8
43cerebritis9.8
44myopathy9.8
45bone resorption disease9.8ACAN, COL2A1, COL9A3
46frontonasal dysplasia 39.8DCN, FMOD
47skeleto cardiac syndrome with thrombocytopenia9.8COL2A1, COMP, MATN3, SLC26A2
48splenic marginal zone lymphoma9.7ACAN, COL9A1, COL9A2, COL9A3
49slc16a1-related hyperinsulinism9.6ACAN, COL2A1, COMP, SLC26A2
50multiple pterygium syndrome, dominant9.6COL9A1, COL9A2, COL9A3, COMP, MATN3

Graphical network of the top 20 diseases related to Pseudoachondroplasia:



Diseases related to pseudoachondroplasia

Symptoms for Pseudoachondroplasia

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Symptoms by clinical synopsis from OMIM:

177170

Clinical features from OMIM:

177170

Symptoms:

 51 (show all 24)
  • short limbs/micromelia/brachymelia
  • wrist/carpal anomalies
  • short hand/brachydactyly
  • metacarpal anomalies/archibald's sign
  • delayed bone age
  • metaphyseal anomaly
  • epiphyseal anomaly
  • bowed diaphysis/diaphyses/long bones
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • lordosis
  • scoliosis
  • platyspondyly
  • short foot/brachydactyly of toes
  • abnormal gait
  • articular/joint pain/arthralgia
  • osteoarthritis
  • restricted joint mobility/joint stiffness/ankylosis
  • hyperextensible joints/articular hyperlaxity
  • kyphosis
  • odontoid hypoplasia
  • genu valgum
  • genu varum

HPO human phenotypes related to Pseudoachondroplasia:

(show all 58)
id Description Frequency HPO Source Accession
1 abnormality of the hip bone hallmark (90%) HP:0003272
2 micromelia hallmark (90%) HP:0002983
3 delayed skeletal maturation hallmark (90%) HP:0002750
4 abnormality of the metacarpal bones hallmark (90%) HP:0001163
5 brachydactyly syndrome hallmark (90%) HP:0001156
6 abnormality of the metaphyses hallmark (90%) HP:0000944
7 hyperlordosis typical (50%) HP:0003307
8 arthralgia typical (50%) HP:0002829
9 osteoarthritis typical (50%) HP:0002758
10 scoliosis typical (50%) HP:0002650
11 short toe typical (50%) HP:0001831
12 joint hypermobility typical (50%) HP:0001382
13 limitation of joint mobility typical (50%) HP:0001376
14 gait disturbance typical (50%) HP:0001288
15 platyspondyly typical (50%) HP:0000926
16 hypoplasia of the odontoid process occasional (7.5%) HP:0003311
17 genu varum occasional (7.5%) HP:0002970
18 genu valgum occasional (7.5%) HP:0002857
19 kyphosis occasional (7.5%) HP:0002808
20 fragmented epiphyses HP:0100168
21 spatulate ribs HP:0012307
22 childhood onset short-limb short stature HP:0011405
23 irregular epiphyses HP:0010582
24 small epiphyses of the phalanges of the hand HP:0010236
25 short metacarpal HP:0010049
26 short distal phalanx of finger HP:0009882
27 ulnar deviation of the hand HP:0009487
28 disproportionate short-limb short stature HP:0008873
29 fragmented, irregular epiphyses HP:0005063
30 beaking of vertebral bodies HP:0004568
31 irregular carpal bones HP:0004236
32 ulnar metaphyseal irregularity HP:0004042
33 radial metaphyseal irregularity HP:0004019
34 atlantoaxial dislocation HP:0003414
35 hypoplasia of the odontoid process HP:0003311
36 limited hip extension HP:0003093
37 ulnar deviation of the wrist HP:0003049
38 short long bone HP:0003026
39 genu varum HP:0002970
40 lumbar hyperlordosis HP:0002938
41 genu valgum HP:0002857
42 flared femoral metaphysis HP:0002834
43 arthralgia HP:0002829
44 genu recurvatum HP:0002816
45 kyphosis HP:0002808
46 osteoarthritis HP:0002758
47 delayed epiphyseal ossification HP:0002663
48 scoliosis HP:0002650
49 waddling gait HP:0002515
50 cervical cord compression HP:0002341
51 carpal bone hypoplasia HP:0001498
52 joint laxity HP:0001388
53 ligamentous laxity HP:0001380
54 degenerative joint disease HP:0001379
55 limited elbow extension HP:0001377
56 brachydactyly syndrome HP:0001156
57 platyspondyly HP:0000926
58 sensory neuropathy HP:0000763

UMLS symptoms related to Pseudoachondroplasia:


waddling gait, ulnar deviation of the wrist, joint laxity

Drugs & Therapeutics for Pseudoachondroplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pseudoachondroplasia

Genetic Tests for Pseudoachondroplasia

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Genetic tests related to Pseudoachondroplasia:

id Genetic test Affiliating Genes
1 Pseudoachondroplasia22 COMP

Anatomical Context for Pseudoachondroplasia

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MalaCards organs/tissues related to Pseudoachondroplasia:

33
Bone, Liver, Endothelial, Heart, Breast, Tongue, Skin

Animal Models for Pseudoachondroplasia or affiliated genes

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MGI Mouse Phenotypes related to Pseudoachondroplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.3COL2A1, COL9A1, COL9A2, SCN8A
2MP:00053717.5COL2A1, COL9A1, COL9A2, COMP, FMOD, MATN3
3MP:00053906.4COL2A1, COL9A1, COL9A2, COMP, DCN, FMOD

Publications for Pseudoachondroplasia

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Articles related to Pseudoachondroplasia:

(show top 50)    (show all 103)
idTitleAuthorsYear
1
Antioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasia. (25859006)
2015
2
Pseudoachondroplasia and painful sequelae. (26177939)
2015
3
Pseudoachondroplasia: a case report. (24364233)
2013
4
Chondrocyte-Specific Pathology During Skeletal Growth and Therapeutics in a Murine Model of Pseudoachondroplasia. (24194321)
2013
5
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. (22006726)
2012
6
Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia. (22154935)
2012
7
Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. (21644213)
2011
8
A novel COMP mutation in a pseudoachondroplasia family of Chinese origin. (21599986)
2011
9
Difficult to control asthma in the patient with pseudoachondroplasia. (22675014)
2011
10
COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype. (21042783)
2010
11
Genetic analysis and serum level of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. (20819661)
2010
12
A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature. (20830670)
2010
13
Deformity correction with external fixator in pseudoachondroplasia. (16957646)
2007
14
Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP. (17588960)
2007
15
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family. (17579668)
2007
16
Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype. (16514635)
2006
17
Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion. (16928687)
2006
18
Retention of the matricellular protein SPARC in the endoplasmic reticulum of chondrocytes from patients with pseudoachondroplasia. (16286662)
2006
19
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. (15756302)
2005
20
Mesomelic dwarfism in pseudoachondroplasia. (15552564)
2004
21
Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP). (14580238)
2004
22
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. (12483304)
2003
23
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. (11968079)
2002
24
A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia. (11745002)
2002
25
Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia. (11746044)
2001
26
Selective intracellular retention of extracellular matrix proteins and chaperones associated with pseudoachondroplasia. (11691584)
2001
27
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. (11746045)
2001
28
Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. (10405447)
1999
29
Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)]. (9632164)
1998
30
Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. (9921895)
1998
31
Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein. (9452063)
1998
32
Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues. (9749943)
1998
33
Mosaicism in pseudoachondroplasia. (9188668)
1997
34
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (8702126)
1996
35
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12. (7490089)
1995
36
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. (7670472)
1995
37
Bone dysplasia in a child born to parents with osteogenesis imperfecta and pseudoachondroplasia. (8074142)
1994
38
Linkage of typical pseudoachondroplasia to chromosome 19. (8307577)
1993
39
Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia. (1442879)
1992
40
Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia. (1670752)
1991
41
Pseudoachondroplasia with immune deficiency. (3263611)
1988
42
Severe pseudoachondroplasia with parental consanguinity. (3989835)
1985
43
Pseudoachondroplasia: biochemical and histochemical studies of cartilage. (6438109)
1984
44
Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. (6409926)
1983
45
The biochemical defect of pseudoachondroplasia. (7117284)
1982
46
Pathogenesis of pseudoachondroplasia and diastrophic dysplasia. (6298815)
1982
47
Pseudoachondroplasia, a report of 13 cases. (871597)
1977
48
Pseudoachondroplasia. (1201340)
1975
49
Picture of the month. Pseudoachondroplasia (pseudoachondroplastic spondlyloepiphyseal dysplasia). (4440652)
1974
50
A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia. (4333078)
1972

Variations for Pseudoachondroplasia

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UniProtKB/Swiss-Prot genetic disease variations for Pseudoachondroplasia:

67 (show all 30)
id Symbol AA change Variation ID SNP ID
1COMPp.Asp290AsnVAR_007614
2COMPp.Gly299ArgVAR_007615
3COMPp.Cys328ArgVAR_007616
4COMPp.Asp349ValVAR_007618
5COMPp.Cys387GlyVAR_007625
6COMPp.Gly440GluVAR_007628
7COMPp.Gly440ArgVAR_007629
8COMPp.Cys468TyrVAR_007632
9COMPp.Asp472TyrVAR_007634
10COMPp.Asp473GlyVAR_007635rs28936669
11COMPp.Asp482GlyVAR_007637
12COMPp.Asp518AsnVAR_007639
13COMPp.Thr585MetVAR_007641
14COMPp.Thr585ArgVAR_007642
15COMPp.Cys348ArgVAR_017102
16COMPp.Gly719AspVAR_017103
17COMPp.Pro234SerVAR_066790
18COMPp.Asp290GlyVAR_066791
19COMPp.Asp326TyrVAR_066796
20COMPp.Asp378ValVAR_066803
21COMPp.Cys387ArgVAR_066807
22COMPp.Asp446AsnVAR_066815
23COMPp.Cys448SerVAR_066816
24COMPp.Asp473HisVAR_066819
25COMPp.Asp475AsnVAR_066820
26COMPp.Asp507GlyVAR_066822
27COMPp.Asp511GlyVAR_066823
28COMPp.Asp515GlyVAR_066824
29COMPp.Thr529IleVAR_066825
30COMPp.Gly719SerVAR_066828

Clinvar genetic disease variations for Pseudoachondroplasia:

5 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1COMPCOMP, 3-BP DEL, (GAC)2deletionPathogenic
2COMPNM_000095.2(COMP): c.1417_1419delGAC (p.Asp473del)deletionPathogenicrs312262897GRCh37Chr 19, 18896845: 18896847
3COMPNM_000095.2(COMP): c.1586C> T (p.Thr529Ile)single nucleotide variantPathogenicrs312262903GRCh37Chr 19, 18896565: 18896565
4COMPNM_000095.2: c.1679A> Gsingle nucleotide variantPathogenic
5COMPNM_000095.2(COMP): c.1747G> A (p.Glu583Lys)single nucleotide variantPathogenicrs312262899GRCh37Chr 19, 18895873: 18895873
6COMPNM_000095.2(COMP): c.1754C> A (p.Thr585Lys)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
7COMPNM_000095.2(COMP): c.1754C> G (p.Thr585Arg)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
8COMPNM_000095.2(COMP): c.1754C> T (p.Thr585Met)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
9COMPNM_000095.2(COMP): c.1760A> G (p.His587Arg)single nucleotide variantPathogenicrs312262901GRCh37Chr 19, 18895860: 18895860
10COMPNM_000095.2(COMP): c.2155G> A (p.Gly719Ser)single nucleotide variantPathogenicrs312262904GRCh37Chr 19, 18893936: 18893936
11COMPNM_000095.2(COMP): c.1414G> T (p.Asp472Tyr)single nucleotide variantPathogenicrs137852650GRCh37Chr 19, 18896850: 18896850
12COMPNM_000095.2(COMP): c.1403G> A (p.Cys468Tyr)single nucleotide variantPathogenicrs137852651GRCh37Chr 19, 18896861: 18896861
13COMPCOMP, 3-BP DEL, 459TCA, SER459DELdeletionPathogenic
14COMPCOMP, 3-BP DEL, (GAC)4deletionPathogenic
15COMPNM_000095.2(COMP): c.982T> C (p.Cys328Arg)single nucleotide variantPathogenicrs137852653GRCh37Chr 19, 18898453: 18898453
16COMPNM_000095.2(COMP): c.1405_1407GAC[7] (p.Asp473_Asn474insAspAsp)NT expansionPathogenicGRCh37Chr 19, 18896845: 18896847
17COMPNM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp)duplicationPathogenicrs312262898GRCh37Chr 19, 18896845: 18896847
18COMPNM_000095.2(COMP): c.2156G> A (p.Gly719Asp)single nucleotide variantPathogenicrs137852655GRCh37Chr 19, 18893935: 18893935
19COMPNM_000095.2(COMP): c.1042T> C (p.Cys348Arg)single nucleotide variantPathogenicrs137852656GRCh37Chr 19, 18898393: 18898393
20COMPCOMP, EX9DELdeletionPathogenic

Expression for genes affiliated with Pseudoachondroplasia

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Search GEO for disease gene expression data for Pseudoachondroplasia.

Pathways for genes affiliated with Pseudoachondroplasia

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Pathways related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

(show all 17)
idSuper pathwaysScoreTop Affiliating Genes
19.6COL9A1, COL9A3
2
Show member pathways
9.4ACAN, FMOD
39.3COL9A1, COL9A2, COL9A3
4
Show member pathways
8.8ACAN, DCN, FMOD
5
Show member pathways
8.8ACAN, DCN, FMOD
68.5ACAN, COL2A1, DCN
7
Show member pathways
8.5COL2A1, COL9A1, COL9A2, COL9A3
88.5COL2A1, COL9A1, COL9A2, COL9A3
9
Show member pathways
8.4ACAN, DCN, FMOD, SLC26A2
108.2COL2A1, COL9A1, COL9A2, COL9A3, COMP
11
Show member pathways
8.2COL2A1, COL9A1, COL9A2, COL9A3, COMP
12
Show member pathways
8.2COL2A1, COL9A1, COL9A2, COL9A3, COMP
13
Show member pathways
8.0ACAN, COL2A1, COL9A1, COL9A2, COL9A3
14
Show member pathways
8.0ACAN, COL2A1, COL9A1, COL9A2, COL9A3
157.7ACAN, COL2A1, COMP, DCN, FMOD
167.0ACAN, COL9A1, COL9A2, COL9A3, COMP, DCN
17
Show member pathways
6.2ACAN, COL2A1, COL9A1, COL9A2, COL9A3, COMP

GO Terms for genes affiliated with Pseudoachondroplasia

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Cellular components related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.3ACAN, DCN
2collagen type IX trimerGO:00055949.2COL9A1, COL9A2, COL9A3

Biological processes related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chondrocyte differentiationGO:00020629.6COL2A1, COL9A1
2glycosaminoglycan metabolic processGO:00302039.6DCN, FMOD
3skeletal system developmentGO:00015019.5COL2A1, COL9A2
4collagen fibril organizationGO:00301999.1ACAN, COL2A1, FMOD
5collagen catabolic processGO:00305748.7COL2A1, COL9A1, COL9A3
6extracellular matrix disassemblyGO:00226177.3ACAN, COL2A1, COL9A1, COL9A2, COL9A3, DCN

Sources for Pseudoachondroplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet